Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt(University of Bonn), Bender Tim(University of Bonn), Uwe Kornak(University of Göttingen), Julia Neugebauer(Charité - Universitätsmedizin Berlin), Theresa Brunet(Helmholtz Zentrum München), Folke Brinkmann(University Hospitals of the Ruhr-University of Bochum), Philip Bufler(Ludwig-Maximilians-Universität München), Sugirthan Sivalingam(University of Bonn), Sarina Schwartzmann(Charité - Universitätsmedizin Berlin), Hannah Klinkhammer(Philipps University of Marburg), Martin Mücke(University of Bonn), Henrike L. Sczakiel(Humboldt-Universität zu Berlin), Lorenz Grigull(University of Bonn), Hartmut Engels, Susanne Holzhauer(Charité - Universitätsmedizin Berlin), Thomas Klockgether(German Center for Neurodegenerative Diseases), Corinna Grasemann(Katholisches Klinikum Bochum), Regina C. Betz(University Hospital Bonn), Manuel Holtgrewe(Berlin Institute of Health at Charité - Universitätsmedizin Berlin), Martin A. Mensah(Humboldt-Universität zu Berlin), Heimbach André(University of Bonn), Huu Phuc Nguyen(University Hospitals of the Ruhr-University of Bochum), Shahida Moosa(Stellenbosch University), Sabine Hoffjan, Sophia Peters(University of Bonn), Kathrin Grundmann(University of Tübingen), Aude‐Annick Suter(University of Zurich), Tzung‐Chien Hsieh(University of Bonn), Corinna Stoltenburg(Humboldt-Universität zu Berlin), Alexej Knaus(University of Bonn), Natalie Weinhold(Charité - Universitätsmedizin Berlin), Luisa Averdunk(Düsseldorf University Hospital), Elisabeth Mangold(University of Bonn), Angela M. Kaindl(German Centre for Cardiovascular Research), Nora Matar(Ruhr University Bochum), Felix Boschann(University of Cambridge), Tobias Rothoeft(Ruhr University Bochum), Christoph Bührer(German Centre for Cardiovascular Research), Annemarie Bösch(Charité - Universitätsmedizin Berlin), Jean Tori Pantel(Universitätsklinikum Aachen), Martina Kreiß(University of Bonn), Claudia Weiß(RWTH Aachen University), Claus‐Eric Ott, Spier Isabel(University of Bonn), Tim Bender(University of Toronto), Kirsten Cremer, Markus Schülke(Charité - Universitätsmedizin Berlin), Magdalena Danyel(Humboldt-Universität zu Berlin), Tillmann Kallinich(Charité - Universitätsmedizin Berlin), Claudia Perne(University of Bonn)
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